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PIDD1
p53-induced death domain protein 1
PIDD1 is located on the short (p) arm of chromosome 11, at band 11p15.5. Arm ratio per GRCh38 - banding schematic.
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Overview
PIDD1 (p53-induced death domain protein 1) is located on chromosome 11p15.5 and encodes a protein involved in DNA damage signalling pathways. The gene is transcriptionally activated by p53, a crucial tumour suppressor protein that responds to cellular stress. PIDD1 plays a regulatory role in determining cell fate following genotoxic stress, participating in decisions between DNA repair, cell cycle arrest, and programmed cell death. Understanding PIDD1 function contributes to broader knowledge of how cells maintain genomic stability and respond to potentially harmful DNA lesions.
What the gene does
The PIDD1 protein functions as a component of cellular stress response pathways, particularly those activated following DNA damage. When cells experience genotoxic stress, PIDD1 expression increases in a p53-dependent manner, positioning it as part of the broader DNA damage response network. The protein can interact with multiple cellular partners to influence downstream signalling outcomes. PIDD1 participates in the formation of protein complexes that regulate inflammatory signalling and cell survival pathways. Through these interactions, PIDD1 helps integrate signals about the extent of cellular damage with appropriate protective or eliminative responses. The protein's involvement in these fundamental processes means it contributes to maintaining tissue homeostasis and cellular quality control mechanisms throughout the body.
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Chromosome location
PIDD1 is located on the short arm of chromosome 11 at position p15.5, a chromosomal region that harbours several genes involved in growth regulation and cellular stress responses. This genomic neighbourhood contains other genes with roles in cell cycle control and apoptosis. The precise exon structure and transcript variants for PIDD1 have been documented, though the gene produces relatively straightforward transcript isoforms compared to more complex genes in the genome.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. The PIDD1 protein contains a death domain, a protein interaction module found in various proteins involved in apoptosis and inflammatory signalling pathways. This structural element allows PIDD1 to engage with other death domain-containing proteins, forming the molecular scaffolds necessary for signal transduction.
Key variants
Genetic variation in PIDD1 can affect protein expression levels or function. Variants may influence how effectively cells respond to DNA damage or metabolic stress. The clinical significance of most PIDD1 variants remains under investigation, and research continues to clarify which changes have functional consequences at the cellular level.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1909C>T | p.Arg637Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
c.2584C>T | p.Arg862Trp | Pathogenic | ★★☆☆ | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
c.1635_1636del | p.Leu547fs | Pathogenic | ★☆☆☆ | not provided |
c.1819del | p.Ala607fs | Pathogenic | ★☆☆☆ | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
c.1917+1G>T | - | Pathogenic | ★☆☆☆ | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
c.989dup | p.Gln331fs | Pathogenic | ★☆☆☆ | Inborn genetic diseases |
c.1804_1805del | p.Gly602fs | Pathogenic | - | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
c.2116_2120del | p.Val706fs | Pathogenic | - | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
c.2275-1G>A | - | Pathogenic | - | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
c.2443C>T | p.Arg815Trp | Pathogenic | - | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Currently, no specific inherited conditions have been definitively linked to pathogenic variants in PIDD1 in major clinical genetics databases. Research into PIDD1 has primarily focused on its cellular functions and potential roles in cancer biology, though the gene is not routinely included in clinical genetic testing panels for inherited disease at present.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the PIDD1 gene do?
PIDD1 provides instructions for making a protein that helps cells respond to DNA damage and other forms of stress. The protein participates in signalling pathways that determine whether damaged cells should attempt repair, stop dividing, or undergo programmed cell death.
Where is the PIDD1 gene located?
PIDD1 is located on chromosome 11 at position p15.5, on the short arm of the chromosome. This region contains other genes involved in cellular growth control and stress responses.
Is PIDD1 included in NHS genetic testing panels?
PIDD1 is not currently included in standard NHS Genomic Medicine Service panels for inherited conditions. Research into the gene continues, but it has not been associated with specific clinical syndromes requiring routine carrier screening or diagnostic testing.